MCID: HYP795
MIFTS: 54

Hypothyroidism, Congenital, Nongoitrous, 4

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 4

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 4:

Name: Hypothyroidism, Congenital, Nongoitrous, 4 57 73
Tsh Deficiency 57 53 55
Thyrotropin Deficiency, Isolated 57 53
Isolated Tsh Deficiency 59 37
Pituitary Cretinism 57 53
Isolated Thyroid-Stimulating Hormone Deficiency 59
Hypothyroidism, Congenital, Nongoitrous, Type 4 40
Thyroid-Stimulating Hormone, Deficiency of 53
Hypothyroidism, Congenital, Nongoitrous 4 57
Thyroid-Stimulating Hormone Deficiency 57
Isolated Thyrotropin Deficiency 59
Secondary Hypothyroidism 73
Chng4 57

Characteristics:

Orphanet epidemiological data:

59
isolated thyroid-stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypothyroidism, congenital, nongoitrous, 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hypothyroidism, Congenital, Nongoitrous, 4

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 4, also known as tsh deficiency, is related to thyroiditis and adenohypophysitis. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 4 is TSHB (Thyroid Stimulating Hormone Beta), and among its related pathways/superpathways are Thyroid hormone synthesis and Aldosterone synthesis and secretion. The drugs Selenium and Iodine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and heart, and related phenotypes are hypothyroidism and muscular hypotonia

Description from OMIM: 275100

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 4

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6

Diseases related to Hypothyroidism, Congenital, Nongoitrous, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 thyroiditis 30.0 TG TPO TSHB
2 adenohypophysitis 29.5 GH1 POMC PRL
3 congenital nongoitrous hypothryoidism 4 11.2
4 thyroid-stimulating hormone level quantitative trait locus 1 11.0
5 central congenital hypothyroidism 10.9
6 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.7 POU1F1 PROP1
7 combined pituitary hormone deficiencies, genetic forms 10.7 POU1F1 PROP1
8 fibrous dysplasia/mccune-albright syndrome 10.6 GH1 PRL
9 septooptic dysplasia 10.6 POU1F1 PROP1
10 combined pituitary hormone deficiency 10.6 POU1F1 PROP1
11 gigantism 10.5 GH1 PRL
12 pituitary hypoplasia 10.5 POU1F1 PRL
13 suprasellar meningioma 10.5 POMC TSHB
14 tetrahydrobiopterin deficiency 10.4 GH1 PRL
15 lymphocytic hypophysitis 10.4 GH1 POMC
16 chiasmal syndrome 10.4 POMC PRL
17 pituitary apoplexy 10.4 POMC PRL
18 pituitary carcinoma 10.4 POMC PRL
19 sella turcica neoplasm 10.4 POMC PRL
20 tuberculum sellae meningioma 10.4 POMC PRL
21 nelson syndrome 10.3 POMC PRL
22 acth-secreting pituitary adenoma 10.3 POMC PRL
23 diabetes insipidus, neurohypophyseal 10.3 POMC PRL
24 sex differentiation disease 10.3 POMC PRL
25 tsh producing pituitary tumor 10.3 GH1 PRL TSHB
26 adrenal cortex disease 10.2 POMC PRL
27 adrenal gland disease 10.2 POMC PRL
28 premenstrual tension 10.2 POMC PRL
29 pituitary stalk interruption syndrome 10.2 GH1 POU1F1 PRL
30 endocrine exophthalmos 10.2 POMC TG
31 borjeson-forssman-lehmann syndrome 10.1 POU1F1 PROP1
32 familial thyroid dyshormonogenesis 10.1 TG TPO
33 subacute lymphocytic thyroiditis 10.1 TG TPO
34 neonatal hypothyroidism 10.1 TG TPO
35 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.1 TG TPO
36 thyroid crisis 10.1 POMC TG
37 ovarian cystic teratoma 10.1 PRL TG
38 acute thyroiditis 10.1 POMC TG
39 pituitary-dependent cushing's disease 10.1 POMC PRL
40 plummer's disease 10.1 TG TPO
41 premature menopause 10.1 TG TPO
42 exophthalmos 10.1 PRL TG
43 graves disease 1 10.1 TG TPO
44 nontoxic goiter 10.1 TG TPO
45 postpartum depression 10.1 PRL TPO
46 myxedema 10.1 TG TPO
47 toxic diffuse goiter 10.1 TG TPO
48 subacute thyroiditis 10.0 TG TPO
49 pernicious anemia 10.0 TG TPO
50 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 TG TPO

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous, 4:



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 4

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia

Abdomen External Features:
umbilical hernia
omphalocele (rare)

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation, severe (if untreated)

Endocrine Features:
hypothyroidism, nongoitrous

Head And Neck Nose:
depressed nasal bridge

Voice:
hoarse cry

Skeletal Skull:
large anterior fontanelle
open posterior fontanelle

Neurologic Central Nervous System:
mental retardation, severe (if untreated)

Laboratory Abnormalities:
low to normal tsh (values may vary depending on the measurement methods used)


Clinical features from OMIM:

275100

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 4:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
4 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
5 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
8 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
11 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
12 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
13 depressed nasal bridge 32 HP:0005280
14 hoarse cry 32 HP:0001615
15 intellectual disability, severe 32 HP:0010864
16 abnormality of metabolism/homeostasis 32 HP:0001939
17 intellectual disability, progressive 32 HP:0006887
18 wide anterior fontanel 32 HP:0000260
19 omphalocele 32 HP:0001539
20 severe postnatal growth retardation 32 HP:0008850
21 generalized hypotonia 32 HP:0001290
22 congenital hypothyroidism 32 HP:0000851

MGI Mouse Phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.92 IGF1 PBX1 POMC POU1F1 PRL PROP1
2 growth/size/body region MP:0005378 9.86 IGF1 PBX1 POMC POU1F1 PROP1 TG
3 homeostasis/metabolism MP:0005376 9.76 PROP1 TG TPO IGF1 PBX1 POMC
4 nervous system MP:0003631 9.5 IGF1 PBX1 POMC POU1F1 PRL PROP1
5 reproductive system MP:0005389 9.1 IGF1 PBX1 POU1F1 PRL PROP1 TSHB

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 4

Drugs for Hypothyroidism, Congenital, Nongoitrous, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 229)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 7782-49-2
2
Iodine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 7553-56-2 807
3
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
4
Copper Approved, Investigational Phase 4 7440-50-8 27099
5
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 44475014
6
Iron Approved Phase 4,Phase 2,Phase 1 7439-89-6 23925
7
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
8
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
9
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
10
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
11
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
13
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
14
Ribavirin Approved Phase 4 36791-04-5 37542
15
Salmon Calcitonin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 47931-85-1 16129616
16
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
17
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
19
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 143 6006
20
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
21
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
22 Orange Approved, Nutraceutical Phase 4
23 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
24
Calcitonin gene-related peptide Investigational Phase 4,Phase 3,Phase 2,Not Applicable 83652-28-2
25 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
26 insulin Phase 4,Not Applicable
27 Insulin, Globin Zinc Phase 4,Not Applicable
28 Antioxidants Phase 4,Phase 2,Not Applicable
29 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
31 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
34 cadexomer iodine Phase 4,Phase 2,Phase 3,Not Applicable
35 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Not Applicable
36 Anti-Infective Agents, Local Phase 4,Phase 2,Phase 3,Not Applicable
37 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
38 Autonomic Agents Phase 4,Phase 2,Not Applicable
39 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
40 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
41 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
42 Carboxymethylcellulose Sodium Phase 4
43 Cathartics Phase 4
44 Gastrointestinal Agents Phase 4
45 Laxatives Phase 4
46 Nicotinic Acids Phase 4
47 Vitamin B 12 Phase 4
48 Vitamin B Complex Phase 4,Phase 3
49 Vitamins Phase 4,Phase 3,Phase 2
50 Antineoplastic Agents, Hormonal Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 239)
# Name Status NCT ID Phase Drugs
1 Effects of Levothyroxine Supplementation in Patients With Systolic Heart Failure and Subclinical Hypothyroidism Unknown status NCT02316743 Phase 4 Levothyroxine supplementation
2 Thyroxine Titration Study Unknown status NCT00111735 Phase 4 Thyroxine
3 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
4 Selenium Supplementation in Youths With Autoimmune Thyroiditis Unknown status NCT02644707 Phase 4
5 Thyroid Hormone Replacement for Subclinical Hypothyroidism Completed NCT01660126 Phase 4 Levothyroxine;Placebo
6 Growth Hormone and GnRH Agonist in Adolescents With Acquired Hypothyroidism Completed NCT00206375 Phase 4 Growth hormone;Growth hormone treatment and puberty
7 Effects of L-carnitine on Hypothyroidism Completed NCT01769157 Phase 4 L-carnitine;Placebo
8 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
9 Effect of T4-T3 Combination Therapy Versus T4 Monotherapy in Patients With Hypothyroidism Completed NCT00531713 Phase 4 Triiodothyronine
10 Study of Radioiodine (131-I) Uptake Following Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal. Completed NCT00001730 Phase 4 Thyrogen
11 The TRUST Study - Depression Substudy Completed NCT01853579 Phase 4 Levothyroxine;Placebo
12 Study of Optimal Replacement of Thyroxine in the Elderly Completed NCT01647750 Phase 4 Levothyroxine;Levothyroxine
13 Bioequivalence of Two Levothyroxine Tablet Formulations in Healthy Indian Volunteers Completed NCT01536678 Phase 4 Levothyroxine;Levothyroxine
14 Study to Verify Clinical Utility of Point-of-Care (POC) Thyroid Stimulating Hormone (TSH) Test Kits as Compared to Third Generation TSH Test Kit Completed NCT01921452 Phase 4
15 The TRUST Trial - CardioVascular Imaging ECHO Completed NCT02832960 Phase 4 Levothyroxine;Placebo
16 The TRUST Study - CardioVascular Imaging IMT Completed NCT02832934 Phase 4 Levothyroxine;Placebo
17 Iodine Status of Preschoolers Given Micronutrient Powder for 6 Months Completed NCT02280330 Phase 4
18 Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene of Cutaneous T Cell Lymphoma Completed NCT01569724 Phase 4
19 Short-term Prednisone to Treat STA Study(SPTSS) Completed NCT01837433 Phase 4 Prednisone 1 week;Prednisone 6 weeks
20 Novel Biomarkers and Skeletal Outcomes Associated With Subclinical Thyroid Dysfunction Completed NCT02491008 Phase 4 Levothyroxine;Placebo
21 Safety and Efficacy of Oral Mega Pulse Methylprednisolone in Severe Therapy Resistant Alopecia Areata Completed NCT01167946 Phase 4 methylprednisolone sodium succinate;methylprednisolone sodium succinate;methylprednisolone sodium succinate
22 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
23 A Triple Combination Therapy Study of Boceprevir, Pegasys and Copegus in Previously Untreated Patients With Genotype 1 Chronic Hepatitis C Completed NCT01591460 Phase 4 boceprevir;peginterferon alfa-2a [Pegasys];peginterferon alfa-2a [Pegasys];ribavirin (Copegus];ribavirin (Copegus]
24 Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism Recruiting NCT02917863 Phase 4 L-Thyroxine (tablet, per os);L-Thyroxine (oral drops, solution)
25 Mean Percentage of Levothyroxine Dosage Increase in Patients With Hypothyroidism Started on Enteral Feeding Recruiting NCT02577367 Phase 4 Levothyroxine
26 Hypothyroidism Treated With Calcitonin Recruiting NCT03342001 Phase 4 Calcitonin
27 Thyroid Hormone Replacement for Subclinical Hypothyroidism and Chronic Heart Failure (ThyroHeart-CHF) Recruiting NCT03096613 Phase 4 Levothyroxine
28 Thyroid Hormone Replacement for Hypothyroidism and Acute Myocardial Infarction(ThyroHeart-AMI) Recruiting NCT02512978 Phase 4 Levothyroxine
29 Levothyroxine Sodium in Thyroidectomized Patients Taking Proton Pump Inhibitors Recruiting NCT03094416 Phase 4 levothyroxine sodium capsule
30 Levothyroxine Replacement With Liquid Gel Capsules vs Tablets Post-thyroidectomy Recruiting NCT02946918 Phase 4 Levothyroxine
31 Effect of Levothyroxine on Serum Adiponectin, Insulin Resistance and Cardiovascular Risk in Patients With Hypothyroidism Active, not recruiting NCT02467244 Phase 4 Levothyroxine
32 Effects of L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Hypothyroidism Active, not recruiting NCT01848171 Phase 4 L-thyroxine
33 Effect of L-Thyroxine on Lipid Profiles and Atherosclerosis in Subclinical Hypothyroidism Active, not recruiting NCT01831869 Phase 4 L-thyroxine
34 Effect of Thyroid Hormone Replacement on Fatigability in Untreated Older Adults With Subclinical Hypothyroidism Active, not recruiting NCT02500342 Phase 4 Levothyroxine;Placebo
35 Effects of Levothyroxine Treatment on Hemodynamic and Renal Functions in Subclinical Hypothyroidism Withdrawn NCT02186405 Phase 4 LEVOTHYROXINE
36 Levothyroxine in Pregnant SLE Patients Withdrawn NCT01276782 Phase 4 Levothyroxine
37 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
38 Thyroxin Treatment in Sub Clinical Hypothyroidism, on the Apnea Hypopnea Index Score, Lipids and Highly Sensitive CRP Unknown status NCT01486667 Phase 3 levothyroxine;sugar pill
39 Early Levothyroxine Post Radioactive Iodine Unknown status NCT01950260 Phase 2, Phase 3 Levothyroxine
40 Levothyroxine Treatment for Subclinical Hypothyroidism After Head and Neck Surgery Unknown status NCT02548715 Phase 2, Phase 3 Levothyroxine;Placebo
41 The Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions Unknown status NCT01204359 Phase 3
42 Medico-Economic Comparison of Four Strategies of Radioiodine Ablation in Thyroid Carcinoma Patients Unknown status NCT00435851 Phase 3 Thyrogen, thyroid hormone withdrawal, iode 131
43 Effects of Levothyroxine on Endothelial Function of Patients With Subclinical Hypothyroidism Completed NCT02090907 Phase 2, Phase 3 Levothyroxine;Placebo
44 Comparison of the Safety and Successful Ablation of Thyroid Remnant in Post-thyroidectomized Euthyroid Patients (i.e. Patients Administered Thyrogen) Versus Hypothyroid Patients (no Thyrogen) Following 131I Administration Completed NCT00196729 Phase 3 Thyrogen + Radioiodine (131I)
45 Subclinical Hypothyroidism and Mind in the Elderly Completed NCT00921050 Phase 2, Phase 3 levothyroxine sodium;excipient without levothyroxine (placebo)
46 Thyroid Therapy for Mild Thyroid Deficiency in Pregnancy Completed NCT00388297 Phase 3 Levothyroxine;Placebo for Levothyroxine
47 Assessing the Impact of the Early and Systematic Hormonal Replacement After Radio-isotopic Ablation of Graves'hyperthyroïdism on Quality of Life, Efficiency and Tolerance Completed NCT01295333 Phase 3 the early prophylactic introduction of low dose of LT4 (50 µg/d) at 15 days post-ablation;The initiation of LT4 as soon as the first biological signs of hypothyroidism.
48 Comparison of Different Doses of 131I in Severe Graves' Hyperthyroidism Completed NCT01039818 Phase 3
49 A New Study to Follow-up Thyroid Cancer Patients Who Participated in a Previous Study, Which Compared the Success of Destruction of the Thyroid Remnant Using Standard Treatment or Thyrogen. Completed NCT00295763 Phase 3 Thyrogen (thyrotropin alfa for injection)
50 Comparison Of Rituximab Versus Tositumomab and Iodine I 131 Tositumomab (BEXXAR® Therapeutic Regimen) For Patients With Relapsed Follicular Non-Hodgkins Lymphoma Completed NCT00268983 Phase 3

Search NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 4

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 4

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 4

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 4:

41
Thyroid, Pituitary, Heart, Testes, B Cells, Bone, Fetal Thyroid

Publications for Hypothyroidism, Congenital, Nongoitrous, 4

Articles related to Hypothyroidism, Congenital, Nongoitrous, 4:

# Title Authors Year
1
Longitudinal study of patients with idiopathic isolated TSH deficiency: possible progression of pituitary dysfunction in lymphocytic adenohypophysitis. ( 16896268 )
2006
2
GH and TSH deficiency. ( 9439906 )
1997
3
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. ( 2792087 )
1989
4
Isolated ACTH deficiency and TSH deficiency in the adult. ( 233250 )
1979
5
Isolated TSH deficiency presenting as myxedema heart disease. ( 4253518 )
1971

Variations for Hypothyroidism, Congenital, Nongoitrous, 4

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 4:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSHB NM_000549.4(TSHB): c.145G> A (p.Gly49Arg) single nucleotide variant Pathogenic rs121918668 GRCh37 Chromosome 1, 115576128: 115576128
2 TSHB NM_000549.4(TSHB): c.145G> A (p.Gly49Arg) single nucleotide variant Pathogenic rs121918668 GRCh38 Chromosome 1, 115033507: 115033507
3 TSHB NM_000549.4(TSHB): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs121918669 GRCh37 Chromosome 1, 115576077: 115576077
4 TSHB NM_000549.4(TSHB): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs121918669 GRCh38 Chromosome 1, 115033456: 115033456
5 TSHB TSHB, 1-BP DEL, 313T deletion Pathogenic
6 TSHB NM_000549.4(TSHB): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs121918670 GRCh37 Chromosome 1, 115576636: 115576636
7 TSHB NM_000549.4(TSHB): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs121918670 GRCh38 Chromosome 1, 115034015: 115034015
8 TSHB TSHB, IVS2, G-A, +5 single nucleotide variant Pathogenic
9 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh38 Chromosome 1, 115033402: 115033402
10 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh37 Chromosome 1, 115576023: 115576023
11 TSHB NM_000549.4(TSHB): c.373delT (p.Cys125Valfs) deletion Pathogenic/Likely pathogenic rs755485552 GRCh38 Chromosome 1, 115034183: 115034183
12 TSHB NM_000549.4(TSHB): c.373delT (p.Cys125Valfs) deletion Pathogenic/Likely pathogenic rs755485552 GRCh37 Chromosome 1, 115576804: 115576804

Expression for Hypothyroidism, Congenital, Nongoitrous, 4

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 4.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 4

Pathways related to Hypothyroidism, Congenital, Nongoitrous, 4 according to KEGG:

37
# Name Kegg Source Accession
1 Thyroid hormone synthesis hsa04918

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 4

Cellular components related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 GH1 IGF1 POMC PRL TG TSHB
2 transcription factor complex GO:0005667 9.33 PBX1 POU1F1 PROP1
3 extracellular space GO:0005615 9.17 GH1 IGF1 POMC PRL TG TPO
4 endosome lumen GO:0031904 8.96 GH1 PRL

Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 IGF1 PBX1 POMC POU1F1 PROP1
2 positive regulation of cell proliferation GO:0008284 9.8 IGF1 PBX1 POU1F1 PRL
3 positive regulation of multicellular organism growth GO:0040018 9.54 GH1 POU1F1
4 regulation of multicellular organism growth GO:0040014 9.52 IGF1 PRL
5 positive regulation of JAK-STAT cascade GO:0046427 9.51 GH1 PRL
6 peptide hormone processing GO:0016486 9.46 POMC TSHB
7 embryonic hemopoiesis GO:0035162 9.43 PBX1 TPO
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.4 GH1 PRL
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.37 GH1 IGF1
10 response to nutrient levels GO:0031667 9.33 GH1 IGF1 PRL
11 hormone biosynthetic process GO:0042446 9.32 TG TPO
12 adenohypophysis development GO:0021984 9.26 POU1F1 PROP1
13 regulation of signaling receptor activity GO:0010469 9.1 GH1 IGF1 POMC PRL TG TSHB
14 somatotropin secreting cell differentiation GO:0060126 8.96 POU1F1 PROP1

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.1 GH1 IGF1 POMC PRL TG TSHB
2 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Hypothyroidism, Congenital, Nongoitrous, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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